Synopsis: Invisible disability specialist Dr. Diana Driscoll discusses Orthostatic Postural Tachycardia Syndrome (POTS), Chronic Fatigue Syndrome (EM / CFS), vagus nerve disorders, Ehlers-Danlos syndrome (EDS) and similar invisible diseases.(1)
Author: Dr. Diana Driscoll(two) Contact: potscare.com
Approximately 157 million Americans suffered from chronic illnesses in 2020, and the US Census Bureau estimates that 96% of chronic illnesses are invisible.
Invisible diseases can cause debilitating chronic pain to sufferers, many who struggle for answers – for whom Dr Driscoll has them …
Dr. Diana Driscoll is an invisible disease specialist and authority on Orthostatic postural tachycardia syndrome (POTS), Chronic fatigue syndrome (EM / CFS), vagus nerve disorders, Ehlers-Danlos syndrome (EDS), and the like invisible diseases. She is the clinical director of POTS Care, the only clinic in the world treating POTS to address the underlying medical causes of POTS, and founder and president of Genetic Disease Investigators, an invisible disease research organization.
Clara suffers from debilitating pain. Daily tasks are daunting and exhausting. She cannot concentrate or remember things. She can’t sleep and sometimes she can’t eat. Clara’s heart skips only when she gets up from a chair. Sometimes she passes out. Other times, she has hallucinations or diarrhea, her eyes get dry or she has trouble concentrating. Some days she feels better and thinks that all that is left behind, only to wake up to a new day feeling totally miserable. Her friends and family do not believe that she is sick because she looks “normal”. Her colleagues doubt that her absences are justified because she does not depend on a cane or wheelchair. Some doctors say her problems are psychological because her test results are still negative. She is beginning to doubt her own sanity, but deep down she knows that she is not crazy and that something is terribly wrong with her body. Clara is clearly suffering from an “invisible illness”.
Woman with her head down holds her forehead as if in pain.
The United States Department of Health and Human Services estimates that 157 million Americans suffered from chronic illnesses in 2020, and the United States Census estimates that 96% of chronic illnesses are “invisible”. The Invisible Disabilities Association (formerly Invisible Disabilities Advocate), an organization dedicated to raising awareness about chronic invisible diseases and disabilities, defines invisible diseases as any medical condition that is not externally visible to others, even to healthcare professionals. They disproportionately affect women and cover a wide range of conditions, including heart disease, diabetes, dementia, lupus, fibromyalgia, autoimmune diseases and even cancer. In Clara’s case, she ended up being diagnosed with Orthostatic Postural Tachycardia Syndrome (POTS). Despite the diagnosis and following the recommended treatment plan, his health continued to deteriorate.
POTS is a type of dysautonomia, a dysfunction of the autonomic nervous system (ANS). ANS automatically controls heart rate, blood pressure, gastrointestinal motility and other automatic body functions. An ANS dysfunction can create symptoms of extreme fatigue, impaired thinking and concentration (brain fog), weakness, tachycardia (fast heart rate), difficulty breathing, headaches, blurred vision, palpitations, tremors and nausea and more – all of which can be unpredictable. Researchers at Johns Hopkins Medicine found that POTS affects about one to three million Americans, is more common in women than in men and is more likely to develop in adolescents and young adults. Patients can show symptoms for months – or in Clara’s case, years – before they are finally diagnosed accurately.
POTS is traditionally treated with medications such as salt tablets, fludrocortisone, pyridostigmine, midodrine, antidepressants and / or beta blockers to help control symptoms. Cleveland Clinic researchers also recommend that patients wear medical thigh compression stockings and purchase a blood pressure monitor to check blood pressure and pulse. None of these is a cure and none of them addresses the medical conditions that can lead to POTS.
Some patients with POTS develop Idiopathic Intracranial Hypertension (HII), another poorly understood condition. It involves increased fluid pressure under the skull and can worsen POTS symptoms. Those who suffer from IIH may experience headaches, visual disturbances, sensitivity to light, pain in the neck and sometimes tinnitus, nausea and vomiting, and some have visual impairment that can go unnoticed for months or even years. IIH does not cause POTS, but if IIH is not treated, the patient will not recover from POTS. When cerebrospinal fluid accumulates at the top of the spine, in the cerebromedullary cistern, it can put pressure on the delicate and sensitive brain stem, which is the center of autonomic function. This gentle pressure can cause dramatic autonomic symptoms. When HII is suspected, doctors usually look the patient in the eye for blurred edges of the optic nerve head (papilledema), but many patients with POTS do not have papilledema and the diagnosis is missed.
The gold standard for the diagnosis of IIH still includes a lumbar puncture, also known as a lumbar puncture. Lumbar punctures are performed on the lower back, the lumbar region, in which a needle is inserted between two vertebrae to remove a sample of cerebrospinal fluid. This is the fluid that surrounds the brain and spinal cord to protect them from injury. An opening pressure can be obtained, and if the fluid pressure is high, IIH can be confirmed. But lumbar punctures are not without risks. They can be painful, they can induce Chiari malformation, a condition in which brain tissue extends to the spinal canal, and they are not the precise determinants of HII in children. It is important to note that if the patient’s intracranial pressure varies, an opening pressure may not capture the episodically high intracranial pressure. And lumbar punctures cannot always be obtained, especially for patients with spinal stenosis or those who are severely dehydrated.
Hence Invisibility. There is more…
Some patients with POTS are diagnosed with Ehlers-Danlos syndrome (EDS) with weak or elastic connective tissue. These patients have a high propensity to suffer from poor healing of the lumbar puncture, setting them up for chronic secondary spinal leaks. Spontaneous or secondary intracranial hypotension (SIH) simulates IIH, and those affected can be disabled by the limited ability to function in the vertical position. SIH is secondary to a spinal fluid leak (CSF) at the spine level and the resulting loss of CSF volume that bathes the brain and spinal cord can cause dramatic symptoms. However, the leak can be difficult to locate. The alternative to subjecting patients to an increased risk of lumbar punctures is to look for clues about the abnormal intracranial pressure in the eyes and brain.
POTS patients should never be treated the same way. No two patients are alike and each case can be extraordinarily complicated. The old de facto treatment of salt loading, expansion of blood volume, vasocontriction, beta-blockers and antidepressants has the potential to not only mask the underlying medical problems, but may also result in the condition getting worse or additional complications for the patient. For example, a patient suffering from HII will be worse off if they receive a diet rich in salt and medications for expanding blood volume that increase intracranial pressure. It is far from a one-size-fits-all situation; the specific course of treatment has real implications.
Regardless of the cause, recovery is only possible by first locating the underlying medical problems and then treating them as safely as possible. By treating only symptoms, patients may suffer unnecessarily and, worse, the diagnosis of an “invisible disease” does not provide validation for the patient’s suffering.
Dr. Diana Driscoll
Dr. Diana Driscoll
Dr. Diana Driscoll, founder and president of Genetic Disease Investigators, is a world renowned invisible disease specialist and a leading authority on Orthostatic Postural Tachycardia Syndrome (POTS), Chronic Fatigue Syndrome (ME / CFS), vagus nerve disorders, Ehlers-Danlos syndrome (EDS), and similar “invisible” diseases. She is also the clinical director of POTS Care, the only clinic in the world that treats POTS by treating the underlying medical cause (s) of POTS.
In her ongoing research and work on autonomic dysfunction, Dr. Driscoll wrote “The Driscoll Theory“, an in-depth scientific publication that reveals the propensity for high intracranial pressure in patients with POTS that dramatically changed how the condition was assessed and treated. She is also an author”Your eyes and EDS“, was the main author of”Ophthalmology Medical Resource Guide“by the Ehlers-Danlos National Foundation and, to date, has three patents. She holds a B.A. from the University of Texas at Austin and a PhD in Optometry from the University of Houston.
(two)Source / Reference: Dra. Diana Driscoll. Disabled World makes no warranties or representations regarding this. The content may have been edited for style, clarity or length.
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